726031001: Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)

\Hereditary ataxia\CAMOS syndrome

\Cerebellar ataxia\Early onset cerebellar ataxia\CAMOS syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\CAMOS syndrome

\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\CAMOS syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\CAMOS syndrome

\Congenital anomaly of visual system\Congenital anomaly of optic nerve\CAMOS syndrome

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\CAMOS syndrome

\Congenital anomaly of optic nerve\CAMOS syndrome

\Optic atrophy\Congenital atrophy of optic nerve\CAMOS syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\CAMOS syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\CAMOS syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\CAMOS syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\CAMOS syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\CAMOS syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\CAMOS syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\CAMOS syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\CAMOS syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\CAMOS syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\CAMOS syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\CAMOS syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\CAMOS syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\CAMOS syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\CAMOS syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\CAMOS syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\CAMOS syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CAMOS syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\CAMOS syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\CAMOS syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\CAMOS syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\CAMOS syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\CAMOS syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\CAMOS syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\CAMOS syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\CAMOS syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\CAMOS syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\CAMOS syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\CAMOS syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital degeneration of nervous system\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\CAMOS syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\CAMOS syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Vascular disease of the skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\CAMOS syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Congenital disease\Congenital atrophy of optic nerve\CAMOS syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\CAMOS syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\CAMOS syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\CAMOS syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\CAMOS syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\CAMOS syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation\CAMOS syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Cutaneous vascular malformation\CAMOS syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3447603012 Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3447604018 CAMOS syndrome en Synonym Active Case sensitive SNOMED CT core

3447605017 CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome en Synonym Active Case sensitive SNOMED CT core

3447606016 Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome en Synonym Active Case insensitive SNOMED CT core

3447607013 SCAR5 - spinocerebellar ataxia autosomal recessive 5 en Synonym Active Case sensitive SNOMED CT core

3447608015 Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
CAMOS syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
CAMOS syndrome	Is a	Congenital anomaly of optic nerve	true	Inferred relationship	Some
CAMOS syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
CAMOS syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
CAMOS syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
CAMOS syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
CAMOS syndrome	Associated morphology	Atrophy	true	Inferred relationship	Some	2
CAMOS syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Some	2
CAMOS syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
CAMOS syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
CAMOS syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
CAMOS syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
CAMOS syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
CAMOS syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
CAMOS syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
CAMOS syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
CAMOS syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
CAMOS syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
CAMOS syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
CAMOS syndrome	Is a	Early onset cerebellar ataxia	true	Inferred relationship	Some
CAMOS syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
CAMOS syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
CAMOS syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
CAMOS syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
CAMOS syndrome	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Some
CAMOS syndrome	Is a	Cutaneous vascular malformation	true	Inferred relationship	Some
CAMOS syndrome	Is a	Congenital atrophy of optic nerve	true	Inferred relationship	Some
CAMOS syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
CAMOS syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	3
CAMOS syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
CAMOS syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
CAMOS syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
CAMOS syndrome	Finding site	Blood vessel structure of skin	false	Inferred relationship	Some	4
CAMOS syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	5
CAMOS syndrome	Finding site	Optic nerve structure	false	Inferred relationship	Some	5
CAMOS syndrome	Finding site	Blood vessel structure of skin	true	Inferred relationship	Some	3
CAMOS syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
CAMOS syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3447603012	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3447604018	CAMOS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3447605017	CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3447606016	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3447607013	SCAR5 - spinocerebellar ataxia autosomal recessive 5	en	Synonym	Active	Case sensitive	SNOMED CT core
3447608015	Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core